Prenatal ultrasound findings in a fetus with congenital contractural arachnodactyly

N. Kölble, J. Wisser, D. Babcock, Cheryl Maslen, R. Huch, B. Steinmann

    Research output: Contribution to journalArticle

    11 Citations (Scopus)

    Abstract

    Congenital contractural arachnodactyly (CCA) or Beals-Hecht syndrome is an autosomal dominant disorder caused by mutations in the fibrillin-2 (FBN2) gene. The principal features of CCA are a marfanoid habitus, multiple congenital contractures, camptodactyly, arachnodactyly, kyphoscoliosis, muscular hypoplasia, and external ear malformations. Our case is the first that shows typical sonographic signs in a fetus at 25 weeks' gestation with molecular genetically verified CCA in a large family with many members affected over four generations. This demonstrates that CCA can be detected prenatally by non-invasive ultrasonography. The importance of confirmation of CCA by means of DNA sequence analysis of the FBN2 gene is stressed.

    Original languageEnglish (US)
    Pages (from-to)395-399
    Number of pages5
    JournalUltrasound in Obstetrics and Gynecology
    Volume20
    Issue number4
    DOIs
    StatePublished - 2002

    Fingerprint

    fetuses
    genes
    Fetus
    ear
    mutations
    deoxyribonucleic acid
    disorders
    Arachnodactyly
    External Ear
    Contracture
    DNA Sequence Analysis
    Genes
    Congenital contractural arachnodactyly
    Ultrasonography
    Pregnancy
    Mutation

    Keywords

    • Congenital contractural arachnodactyly (CCA)
    • Fibrillin-2 (FBN2) gene
    • Prenatal diagnosis
    • Ultrasound

    ASJC Scopus subject areas

    • Obstetrics and Gynecology
    • Radiology Nuclear Medicine and imaging
    • Radiological and Ultrasound Technology
    • Reproductive Medicine
    • Acoustics and Ultrasonics

    Cite this

    Prenatal ultrasound findings in a fetus with congenital contractural arachnodactyly. / Kölble, N.; Wisser, J.; Babcock, D.; Maslen, Cheryl; Huch, R.; Steinmann, B.

    In: Ultrasound in Obstetrics and Gynecology, Vol. 20, No. 4, 2002, p. 395-399.

    Research output: Contribution to journalArticle

    Kölble, N. ; Wisser, J. ; Babcock, D. ; Maslen, Cheryl ; Huch, R. ; Steinmann, B. / Prenatal ultrasound findings in a fetus with congenital contractural arachnodactyly. In: Ultrasound in Obstetrics and Gynecology. 2002 ; Vol. 20, No. 4. pp. 395-399.
    @article{ac7b254a8d134a6baf26c2a9290ce100,
    title = "Prenatal ultrasound findings in a fetus with congenital contractural arachnodactyly",
    abstract = "Congenital contractural arachnodactyly (CCA) or Beals-Hecht syndrome is an autosomal dominant disorder caused by mutations in the fibrillin-2 (FBN2) gene. The principal features of CCA are a marfanoid habitus, multiple congenital contractures, camptodactyly, arachnodactyly, kyphoscoliosis, muscular hypoplasia, and external ear malformations. Our case is the first that shows typical sonographic signs in a fetus at 25 weeks' gestation with molecular genetically verified CCA in a large family with many members affected over four generations. This demonstrates that CCA can be detected prenatally by non-invasive ultrasonography. The importance of confirmation of CCA by means of DNA sequence analysis of the FBN2 gene is stressed.",
    keywords = "Congenital contractural arachnodactyly (CCA), Fibrillin-2 (FBN2) gene, Prenatal diagnosis, Ultrasound",
    author = "N. K{\"o}lble and J. Wisser and D. Babcock and Cheryl Maslen and R. Huch and B. Steinmann",
    year = "2002",
    doi = "10.1046/j.1469-0705.2002.00819.x",
    language = "English (US)",
    volume = "20",
    pages = "395--399",
    journal = "Ultrasound in Obstetrics and Gynecology",
    issn = "0960-7692",
    publisher = "John Wiley and Sons Ltd",
    number = "4",

    }

    TY - JOUR

    T1 - Prenatal ultrasound findings in a fetus with congenital contractural arachnodactyly

    AU - Kölble, N.

    AU - Wisser, J.

    AU - Babcock, D.

    AU - Maslen, Cheryl

    AU - Huch, R.

    AU - Steinmann, B.

    PY - 2002

    Y1 - 2002

    N2 - Congenital contractural arachnodactyly (CCA) or Beals-Hecht syndrome is an autosomal dominant disorder caused by mutations in the fibrillin-2 (FBN2) gene. The principal features of CCA are a marfanoid habitus, multiple congenital contractures, camptodactyly, arachnodactyly, kyphoscoliosis, muscular hypoplasia, and external ear malformations. Our case is the first that shows typical sonographic signs in a fetus at 25 weeks' gestation with molecular genetically verified CCA in a large family with many members affected over four generations. This demonstrates that CCA can be detected prenatally by non-invasive ultrasonography. The importance of confirmation of CCA by means of DNA sequence analysis of the FBN2 gene is stressed.

    AB - Congenital contractural arachnodactyly (CCA) or Beals-Hecht syndrome is an autosomal dominant disorder caused by mutations in the fibrillin-2 (FBN2) gene. The principal features of CCA are a marfanoid habitus, multiple congenital contractures, camptodactyly, arachnodactyly, kyphoscoliosis, muscular hypoplasia, and external ear malformations. Our case is the first that shows typical sonographic signs in a fetus at 25 weeks' gestation with molecular genetically verified CCA in a large family with many members affected over four generations. This demonstrates that CCA can be detected prenatally by non-invasive ultrasonography. The importance of confirmation of CCA by means of DNA sequence analysis of the FBN2 gene is stressed.

    KW - Congenital contractural arachnodactyly (CCA)

    KW - Fibrillin-2 (FBN2) gene

    KW - Prenatal diagnosis

    KW - Ultrasound

    UR - http://www.scopus.com/inward/record.url?scp=0036034847&partnerID=8YFLogxK

    UR - http://www.scopus.com/inward/citedby.url?scp=0036034847&partnerID=8YFLogxK

    U2 - 10.1046/j.1469-0705.2002.00819.x

    DO - 10.1046/j.1469-0705.2002.00819.x

    M3 - Article

    C2 - 12383326

    AN - SCOPUS:0036034847

    VL - 20

    SP - 395

    EP - 399

    JO - Ultrasound in Obstetrics and Gynecology

    JF - Ultrasound in Obstetrics and Gynecology

    SN - 0960-7692

    IS - 4

    ER -